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Funded by an IRDiRC member = Member of a ERN =

Research projects

BELGIUM

OOST-VLAANDEREN
GENT

Funded by an IRDiRC memberCharacterization of HINT1 knockout fly model for peripheral neuropathy
VIB headquarters
VIB (vlaams instituut voor biotechnologie) headquarters

FINLAND

Finland
HELSINKI

FINLAND

Finland
HELSINKI

Funded by an IRDiRC memberHereditary neuropathy and spastic paraplegia: new mechanisms, biomarkers and treatment
University of Helsinki
Stem Cells and Metabolism Research Program

FRANCE

ILE-DE-FRANCE
GIF-SUR-YVETTE

Funded by an IRDiRC memberCore Molecular Mechanisms and Lipid Determinants of Mitofusin-mediated Mitochondrial Fusion
Institut de Biologie Intégrative de la Cellule (I2BC)
Lipid trafficking and membrane contact sites

FRANCE

ILE-DE-FRANCE
PARIS

Genetical basis of Charcot-Marie-Tooth disease and hereditary neuropathies
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCE

NOUVELLE AQUITAINE
LIMOGES

HUNGARY

Közép-Magyarország
BUDAPEST

Genetic epidemiology analysis in hereditary neuropathies
Institute of Genomic Medicine and Rare Disorders, Semmelweis University
Genetics Laboratory

ITALY

EMILIA ROMAGNA
ADDRESS: NOT PROVIDED - IT

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberTargeting Schwann cell proteostasis as a therapeutic strategy in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberRole of the ER stress transcription factor XBP1 in Charcot-Marie-Tooth disease
IRCCS Ospedale San Raffaele
Unità di Ricerca - Biologia della mielina

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberGenotypical and phenotypical characterization in a series of patients with late-onset hereditary neuropathies
Hospital Universitario y Politécnico La Fe
Unidad de Patología Neuromuscular

SWEDEN

Region Stockholm
ADDRESS: NOT PROVIDED - SE

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA resource for mouse models of peripheral neuropathy
Institution: Information not provided - US

SPAIN

Cataluña
BARCELONA

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Química Avanzada de Cataluña
Unidad de Investigación en Moléculas Bioactivas

SPAIN

País Vasco
SAN SEBASTIÁN

Advanced genomics and lipidomics for identifying novel causes of inherited movement disorders
Instituto de Investigación Sanitaria Biodonostia
Área de Neurociencias

FRANCE

NOUVELLE AQUITAINE
LIMOGES

Funded by an IRDiRC memberDevelopment of a nanoparticle curcumin-based treatment for patients with peripheral neuropathies
Université de Limoges
Équipe Maintenance Myélinique et Neuropathies Périphériques (MMNP)

ITALY

VENETO
PADOVA

Funded by an IRDiRC memberLinking Cx32 hemichannel dysfunction to Charcot-Marie-Tooth disease pathogenesis
Venetian Institute of Molecular Medicine
Centro di Ricerca della Fondazione per la Ricerca Biomedica Avanzata

SPAIN

Cataluña
BARCELONA

Igenco: In-Depth genomics and cross-omics analysis for undiagnosed rare diseases on a user-friendly collaborative platform
ISGlobal - Instituto de Salud Global de Barcelona
Programa de investigación en Enfermedades no transmisibles y medio ambiente

SPAIN

Madrid
MADRID

CANADA

Colombie-Britannique
VICTORIA

CANADA

Ontario
TORONTO

CYPRUS

Cyprus
ADDRESS: NOT PROVIDED - CY

Funded by an IRDiRC memberA gene therapy approach for treating CMT4C
Institution: Information not provided - CY

FRANCE

ILE-DE-FRANCE
PARIS

Search for Charcot-Marie-Tooth disease type 2 autosomal dominant causative genes (axonal and spinal forms)
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

GERMANY

Baden-Württemberg
TÜBINGEN

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (coordinator)
Department für Augenheilkunde Tübingen
Molekulargenetisches Labor

GERMANY

Niedersachsen
OLDENBURG

Funded by an IRDiRC memberTreatOPON : Preclinical Development of Treatments for OPA1-linked Optic Neuropathies (partner no 2 )
Carl von Ossietzky Universität Oldenburg
Abteilung für Humangenetik

ITALY

LAZIO
ROMA

Funded by an IRDiRC memberDiverse rare diseases caused by functional dysregulation of Rho GTPase-related proteins
ISS - Istituto Superiore di Sanità
Centro Nazionale Malattie Rare

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberUnravelling mechanisms of axonal loss in late-onset genetic neuropathies
Fondazione IRCCS Istituto Neurologico "Carlo Besta"
Clinica Neuropatie Degenerative Centrali e Periferiche

SPAIN

Comunidad Valenciana
VALENCIA

Funded by an IRDiRC memberCharacterising new genes and protein biomarkers to progress in the diagnosis, prognosis and therapy of axonal hereditary neuropathy (CMT2)
Centro de Investigación Príncipe Felipe (CIPF)
Servicio de Genómica y Genética Traslacional

SPAIN

Madrid
MADRID

Funded by an IRDiRC memberIdentification of new genes causing rare diseases in pediatric patients, searching of genetic pharmacological targets, and drugs discovery, the steps for a personalized medicine
Instituto de Investigación Hospital 12 de Octubre
Grupo de investigación en enfermedades raras, mitocondriales y neuromusculares

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberA powerful web-based discovery platform for rare disease genetics
Institution: Information not provided - US

BELGIUM

VLAAMS BRABANT
LEUVEN

Funded by an IRDiRC memberIdentification of therapies targeting lipid metabolism & myelination for Charcot-Marie-Tooth disease type 1A using patient derived Schwann cells
UZ Leuven - Campus Gasthuisberg
Ludo Van Den Bosch Lab- VIB-KU Leuven Center for Brain & Disease Research

FRANCE

AUVERGNE-RHONE-ALPES
ADDRESS: NOT PROVIDED - FR

FRANCE

GRAND-EST
STRASBOURG

Funded by an IRDiRC memberStudy of two neuromuscular diseases due to mutations in myotubularins MTM1 or MTMR2 by using yeast, cell lines and mice models
Génétique Moléculaire Génomique Microbiologie - GMGM
Trafic membranaire et signalisation lipidique

FRANCE

ILE-DE-FRANCE
PARIS

Search for phenotype modifier genes in Charcot-Marie-Tooth 1A
Institut du Cerveau et de la Moelle épinière (ICM) - Hôpital Pitié-Salpêtrière
Equipe "Excitabilité, synapse & pathologies associées"

FRANCE

OCCITANIE
TOULOUSE

Funded by an IRDiRC memberIdentification of phospholipid effectors and potential biomarkers in Charcot-Marie-Tooth type 4B neuropathie
CHU de Toulouse - Hôpital Purpan
Département oncogenèse, signalisation et innovation thérapeutique

FRANCE

PAYS DE LA LOIRE
ANGERS

Funded by an IRDiRC memberMetabolomic exploration of dysregulated lipid metabolism in MFN2-related CMT2A
CHU d'Angers
Centre de Référence des Maladies Neuromusculaires

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

FRANCE

PROVENCE-ALPES-COTE D'AZUR
MARSEILLE

Funded by an IRDiRC memberCMTHER: CMT1A phenotype correction by modulating molecules for PMP22 gene expression : role of ascorbic acid and other molecules
Université de médecine Aix-Marseille Université
Thérapie des Maladies Génétiques (EA 1263)

ITALY

LIGURIA
GENOVA

Funded by an IRDiRC memberAn in vitro model of myelin protein zero mutations in schwann cells: from pathogenesis to therapy
IRCCS Ospedale Policlinico San Martino - IST - DINOGMI
Dipartimento di Neuroscienze, Oftalmologia, Riabilitazione, Genetica e Scienze Materno Infantili

ITALY

LOMBARDIA
MILANO

Funded by an IRDiRC memberKnockdown and Replacement of MFN2: a Gene Therapy to treat Dominantly Inherited Peripheral Neuropathy CMT2A
Fondazione IRCCS Ca' Granda - Ospedale Maggiore Policlinico
Dipartimento di Scienze Neurologiche

ITALY

PUGLIA
LECCE

Funded by an IRDiRC memberCharcot-Marie-Tooth type 2B: Role of the Rab7 GTPase and of Rab7 interacting proteins
Università degli Studi del Salento
Dipartimento di Scienze e Tecnologie Biologiche ed Ambientali

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberCharcot-marie-tooth (cmt) disease
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Funded by an IRDiRC memberFolding; misfolding; and function of pmp22
Institution: Information not provided - US

UNITED STATES

Washington
ADDRESS: NOT PROVIDED - US

Multicentric Research projects